[Neuronal intranuclear inclusion disease (NIID)].
[Neuronal intranuclear inclusion disease (NIID)].
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DOI：
10.5692/clinicalneurol.cn-001417
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发表时间：
2020-10-24
期刊：
影响因子：
--
通讯作者：
Sone, Jun
中科院分区：
文献类型：
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作者：
Sone, Jun
神经元核内包涵体病(NIID)是一种进行性神经退行性疾病，直到最近才被尸检诊断出来，但自2011年皮肤活检被报道有用以来，病例数量有所增加。2019年，NOTCH2NLC基因上GGC重复序列的延伸被确定为NIID的遗传原因，基因诊断成为可能。在NIID中，有两组：一组起病时有认知功能障碍，头颅MRI上有白质脑病，DWI上皮质-脊髓交界处有高信号，另一组有肢体无力。在白质脑病和神经病的鉴别诊断中有必要纳入NIID，并结合皮肤活检和基因检测，以准确诊断NIID，促进病理澄清。
Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease that had been diagnosed by autopsy until recently, but the number of cases has increased since skin biopsy was reported to be useful in 2011. In 2019, the genetical cause of NIID was identified as the extension of the GGC repeat sequence on the NOTCH2NLC gene, and genetic diagnosis became possible. In NIID, there are two groups: a group onset with cognitive dysfunction, and with leukoencephalopathy on head MRI and a high intensity signal at the corticomedurally junction on DWI, and a group with limb weakness. It is necessary to include NIID in the differential diagnosis of leukoencephalopathy and neuropathy, and it is necessary to combine skin biopsy and genetic testing to accurately diagnose of NIID and promote pathological elucidation.